An Overview of the Most Common Enzyme Defect, Glucose-6-Phosphate-Dehydrogenase Deficiency

Document Type : Original Article

Authors

1 Umm Alqura University

2 Ibn Sina National College

3 King Abdulaziz University

4 Batterjee Medical College for Sciences and Technology

5 Taiz University

6 University of Gezira

7 Al Furat University

10.12816/0042970

Abstract

Background: Glucose-6-Phosphate-Dehydrogenase (G6PD) deficiency is the most common enzyme deficiency globally and is more remarkable in certain parts of the world which had high malaria prevalence in the past. It is an X-linked genetically inherited disorder, where the first presentation can be neonatal jaundice. There are over 300 variants of this disorder based upon the genetics. Although the morbidity and mortality is not very high, the deficiency can be more appropriately managed by proper preventive methods which include screening and avoidance of trigger. Also prompt management of acute hemolysis can save a child from many complications.            
Methodology: we conducted this review using a comprehensive search of MEDLINE, PubMed, and EMBASE from January 1987 to March 2017. The following search terms were used: G6PD deficiency, prevalence of G6PD, genetics of G6PD deficiency, management and diagnosis of G6PD
Aim of the work: this study  aimed to understand about the etiology, pathophysiology and study various lines of prevention and management of G6PD deficiency in pediatric age group.
Conclusion: proper preventive and treatment methods can avoid negative effects on the child’squality of life andreduce morbidity and mortality, therefore the child’s care takers must be well informed.  

Keywords

The Egyptian Journal of Hospital Medicine
Volume 70, Issue 1
January 2018
Pages 102-108

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